Meacham Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MCH011 MIFTS: 29	Meacham Syndrome Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases, Cardiovascular diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Meacham Syndrome

MalaCards integrated aliases for Meacham Syndrome:

Name: Meacham Syndrome ⁵⁷ ⁵⁹ ⁷⁵ ²⁹ ¹³ ⁶ ⁴⁰ ⁷³

Rhabdomyomatous Dysplasia-Cardiopathy-Genital Anomalies Syndrome ⁵⁹

Meacham Winn Culler Syndrome ⁷³

Meacham-Winn-Culler Syndrome ⁵⁹

Meachs ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

meacham syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁹

Rare gynaecological and obstetric diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 608978

Orphanet ⁵⁹ ORPHA3097

UMLS via Orphanet ⁷⁴ C1837026 C2931752

ICD10 via Orphanet ³⁴ Q87.8

MedGen ⁴² C1837026

UMLS ⁷³ C1837026 C2931752

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Summaries for Meacham Syndrome

UniProtKB/Swiss-Prot : ⁷⁵ Meacham syndrome: Rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities.

MalaCards based summary : Meacham Syndrome, also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome, is related to meacham winn culler syndrome and diaphragmatic hernia, congenital. An important gene associated with Meacham Syndrome is WT1 (Wilms Tumor 1). Affiliated tissues include heart, uterus and lung, and related phenotypes are ambiguous genitalia and vaginal atresia

Description from OMIM: 608978

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Related Diseases for Meacham Syndrome

Diseases related to Meacham Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	meacham winn culler syndrome	11.0
2	diaphragmatic hernia, congenital	9.9
3	wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	9.5	WT1 WT1-AS
4	diffuse mesangial sclerosis	9.5	WT1 WT1-AS
5	wilson-turner x-linked mental retardation syndrome	9.4	WT1 WT1-AS
6	frasier syndrome	9.3	WT1 WT1-AS
7	wilms tumor 1	9.2	WT1 WT1-AS
8	leukemia, acute myeloid	9.0	WT1 WT1-AS

Graphical network of the top 20 diseases related to Meacham Syndrome:

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Symptoms & Phenotypes for Meacham Syndrome

Clinical features from OMIM:

608978

Human phenotypes related to Meacham Syndrome:

⁵⁹ ³² (show all 25)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	ambiguous genitalia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000062
2	vaginal atresia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000148
3	congenital diaphragmatic hernia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000776
4	aplasia/hypoplasia of the lungs ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006703
5	abnormality of the fallopian tube ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011027
6	cryptorchidism ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000028
7	hypoplastic left heart ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004383
8	hypoplasia of penis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008736
9	hydrometrocolpos ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0030010
10	pulmonary sequestration ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100632
11	horseshoe kidney ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000085
12	ventricular septal defect ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001629
13	atrial septal defect ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001631
14	tetralogy of fallot ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001636
15	patent ductus arteriosus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001643
16	aortic valve stenosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001650
17	transposition of the great arteries ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001669
18	coarctation of aorta ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001680
19	situs inversus totalis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001696
20	abnormality of the spleen ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001743
21	crossed fused renal ectopia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0004736
22	anomalous pulmonary venous return ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0010772
23	abnormality of the vagina ⁵⁹		Very frequent (99-80%)
24	abnormal lung lobation ⁵⁹		Frequent (79-30%)
25	conotruncal defect ⁵⁹		Occasional (29-5%)

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Drugs & Therapeutics for Meacham Syndrome

Search Clinical Trials , NIH Clinical Center for Meacham Syndrome

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Genetic Tests for Meacham Syndrome

Genetic tests related to Meacham Syndrome:

#	Genetic test	Affiliating Genes
1	Meacham Syndrome ²⁹	WT1

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Anatomical Context for Meacham Syndrome

MalaCards organs/tissues related to Meacham Syndrome:

⁴¹

Heart, Uterus, Lung, Kidney, Spleen

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Publications for Meacham Syndrome

Articles related to Meacham Syndrome:

#	Title	Authors	Year
1	WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. ( 17853480 )	Suri M....Reardon W.	2007
2	Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome. ( 11822701 )	Killeen O.G....Reardon W.	2002

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Genes for Meacham Syndrome

Genes related to Meacham Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	WT1	Wilms Tumor 1	Protein Coding	1688.94	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	17853480 1655284 1302008 (more) 6307071 1338906 1327525 9090524 9607189
2	WT1-AS	WT1 Antisense RNA	RNA Gene	18.87	GeneCards inferred via : Variants (show sections)

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Variations for Meacham Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Meacham Syndrome:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	WT1	p.Arg366Cys	VAR_007745
2	WT1	p.Arg394Trp	VAR_007750

ClinVar genetic disease variations for Meacham Syndrome:

⁶

(show top 50) (show all 180)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	WT1	NM_024426.4(WT1): c.1384C> T (p.Arg462Trp)	single nucleotide variant	Pathogenic	rs121907900	GRCh37	Chromosome 11, 32413566: 32413566
2	WT1	NM_024426.4(WT1): c.1384C> T (p.Arg462Trp)	single nucleotide variant	Pathogenic	rs121907900	GRCh38	Chromosome 11, 32392020: 32392020
3	WT1	NM_024426.4(WT1): c.1300C> T (p.Arg434Cys)	single nucleotide variant	Pathogenic	rs121907910	GRCh37	Chromosome 11, 32414251: 32414251
4	WT1	NM_024426.4(WT1): c.1300C> T (p.Arg434Cys)	single nucleotide variant	Pathogenic	rs121907910	GRCh38	Chromosome 11, 32392705: 32392705
5	WT1	NM_024426.4(WT1): c.108G> C (p.Pro36=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs555140661	GRCh37	Chromosome 11, 32456784: 32456784
6	WT1	NM_024426.4(WT1): c.108G> C (p.Pro36=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs555140661	GRCh38	Chromosome 11, 32435238: 32435238
7	WT1	NM_024426.4(WT1): c.330C> T (p.Pro110=)	single nucleotide variant	Benign	rs1799925	GRCh37	Chromosome 11, 32456562: 32456562
8	WT1	NM_024426.4(WT1): c.330C> T (p.Pro110=)	single nucleotide variant	Benign	rs1799925	GRCh38	Chromosome 11, 32435016: 32435016
9	WT1	NM_024426.4(WT1): c.1107A> G (p.Arg369=)	single nucleotide variant	Benign	rs16754	GRCh37	Chromosome 11, 32417945: 32417945
10	WT1	NM_024426.4(WT1): c.1107A> G (p.Arg369=)	single nucleotide variant	Benign	rs16754	GRCh38	Chromosome 11, 32396399: 32396399
11	WT1	NM_024426.4(WT1): c.1099-9T> C	single nucleotide variant	Benign/Likely benign	rs5030274	GRCh38	Chromosome 11, 32396416: 32396416
12	WT1	NM_024426.4(WT1): c.1099-9T> C	single nucleotide variant	Benign/Likely benign	rs5030274	GRCh37	Chromosome 11, 32417962: 32417962
13	WT1	NM_024426.4(WT1): c.360C> T (p.Gly120=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs776209354	GRCh38	Chromosome 11, 32434986: 32434986
14	WT1	NM_024426.4(WT1): c.360C> T (p.Gly120=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs776209354	GRCh37	Chromosome 11, 32456532: 32456532
15	WT1	NM_024426.4(WT1): c.294C> A (p.Gly98=)	single nucleotide variant	Benign/Likely benign	rs547333427	GRCh38	Chromosome 11, 32435052: 32435052
16	WT1	NM_024426.4(WT1): c.294C> A (p.Gly98=)	single nucleotide variant	Benign/Likely benign	rs547333427	GRCh37	Chromosome 11, 32456598: 32456598
17	WT1	NM_024426.4(WT1): c.201G> T (p.Gln67His)	single nucleotide variant	Benign/Likely benign	rs5030135	GRCh38	Chromosome 11, 32435145: 32435145
18	WT1	NM_024426.4(WT1): c.201G> T (p.Gln67His)	single nucleotide variant	Benign/Likely benign	rs5030135	GRCh37	Chromosome 11, 32456691: 32456691
19	WT1	NM_024426.4(WT1): c.166C> A (p.Arg56=)	single nucleotide variant	Benign/Likely benign	rs2234581	GRCh38	Chromosome 11, 32435180: 32435180
20	WT1	NM_024426.4(WT1): c.166C> A (p.Arg56=)	single nucleotide variant	Benign/Likely benign	rs2234581	GRCh37	Chromosome 11, 32456726: 32456726
21	WT1	NM_024426.4(WT1): c.68G> A (p.Gly23Glu)	single nucleotide variant	Uncertain significance	rs751641518	GRCh38	Chromosome 11, 32435278: 32435278
22	WT1	NM_024426.4(WT1): c.68G> A (p.Gly23Glu)	single nucleotide variant	Uncertain significance	rs751641518	GRCh37	Chromosome 11, 32456824: 32456824
23	WT1	NM_024426.4(WT1): c.1059A> G (p.Gln353=)	single nucleotide variant	Benign/Likely benign	rs2234590	GRCh37	Chromosome 11, 32421533: 32421533
24	WT1	NM_024426.4(WT1): c.1059A> G (p.Gln353=)	single nucleotide variant	Benign/Likely benign	rs2234590	GRCh38	Chromosome 11, 32399987: 32399987
25	WT1	NM_024426.4(WT1): c.681C> T (p.Ser227=)	single nucleotide variant	Benign/Likely benign	rs9332974	GRCh38	Chromosome 11, 32428585: 32428585
26	WT1	NM_024426.4(WT1): c.681C> T (p.Ser227=)	single nucleotide variant	Benign/Likely benign	rs9332974	GRCh37	Chromosome 11, 32450131: 32450131
27	WT1	NM_024426.4(WT1): c.594C> T (p.Asn198=)	single nucleotide variant	Benign/Likely benign	rs2234583	GRCh37	Chromosome 11, 32456298: 32456298
28	WT1	NM_024426.4(WT1): c.594C> T (p.Asn198=)	single nucleotide variant	Benign/Likely benign	rs2234583	GRCh38	Chromosome 11, 32434752: 32434752
29	WT1	NM_024426.4(WT1): c.498C> A (p.Gly166=)	single nucleotide variant	Benign/Likely benign	rs536728682	GRCh38	Chromosome 11, 32434848: 32434848
30	WT1	NM_024426.4(WT1): c.498C> A (p.Gly166=)	single nucleotide variant	Benign/Likely benign	rs536728682	GRCh37	Chromosome 11, 32456394: 32456394
31	WT1	NM_024426.4(WT1): c.366C> G (p.Pro122=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs771681406	GRCh38	Chromosome 11, 32434980: 32434980
32	WT1	NM_024426.4(WT1): c.366C> G (p.Pro122=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs771681406	GRCh37	Chromosome 11, 32456526: 32456526
33	WT1	NM_024426.4(WT1): c.198G> T (p.Pro66=)	single nucleotide variant	Benign	rs2234582	GRCh37	Chromosome 11, 32456694: 32456694
34	WT1	NM_024426.4(WT1): c.198G> T (p.Pro66=)	single nucleotide variant	Benign	rs2234582	GRCh38	Chromosome 11, 32435148: 32435148
35	WT1	NM_024426.4(WT1): c.*1132A> T	single nucleotide variant	Likely benign	rs5030328	GRCh38	Chromosome 11, 32387926: 32387926
36	WT1	NM_024426.4(WT1): c.*1132A> T	single nucleotide variant	Likely benign	rs5030328	GRCh37	Chromosome 11, 32409472: 32409472
37	WT1	NM_024426.4(WT1): c.*1098C> T	single nucleotide variant	Likely benign	rs5030327	GRCh38	Chromosome 11, 32387960: 32387960
38	WT1	NM_024426.4(WT1): c.*1098C> T	single nucleotide variant	Likely benign	rs5030327	GRCh37	Chromosome 11, 32409506: 32409506
39	WT1	NM_024426.4(WT1): c.*1058G> T	single nucleotide variant	Uncertain significance	rs886048211	GRCh37	Chromosome 11, 32409546: 32409546
40	WT1	NM_024426.4(WT1): c.*1058G> T	single nucleotide variant	Uncertain significance	rs886048211	GRCh38	Chromosome 11, 32388000: 32388000
41	WT1	NM_024426.4(WT1): c.1053_1054dupGT	duplication	Uncertain significance	rs878917290	GRCh37	Chromosome 11, 32409550: 32409551
42	WT1	NM_024426.4(WT1): c.1053_1054dupGT	duplication	Uncertain significance	rs878917290	GRCh38	Chromosome 11, 32388004: 32388005
43	WT1	NM_024426.4(WT1): c.*897G> C	single nucleotide variant	Likely benign	rs5030324	GRCh37	Chromosome 11, 32409707: 32409707
44	WT1	NM_024426.4(WT1): c.*897G> C	single nucleotide variant	Likely benign	rs5030324	GRCh38	Chromosome 11, 32388161: 32388161
45	WT1	NM_024426.4(WT1): c.*864T> A	single nucleotide variant	Likely benign	rs5030323	GRCh37	Chromosome 11, 32409740: 32409740
46	WT1	NM_024426.4(WT1): c.*864T> A	single nucleotide variant	Likely benign	rs5030323	GRCh38	Chromosome 11, 32388194: 32388194
47	WT1	NM_024426.4(WT1): c.*835A> G	single nucleotide variant	Likely benign	rs5030322	GRCh37	Chromosome 11, 32409769: 32409769
48	WT1	NM_024426.4(WT1): c.*835A> G	single nucleotide variant	Likely benign	rs5030322	GRCh38	Chromosome 11, 32388223: 32388223
49	WT1	NM_024426.4(WT1): c.*685G> T	single nucleotide variant	Uncertain significance	rs886048218	GRCh37	Chromosome 11, 32409919: 32409919
50	WT1	NM_024426.4(WT1): c.*685G> T	single nucleotide variant	Uncertain significance	rs886048218	GRCh38	Chromosome 11, 32388373: 32388373

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Expression for Meacham Syndrome

Search GEO for disease gene expression data for Meacham Syndrome.

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Pathways for Meacham Syndrome

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GO Terms for Meacham Syndrome

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Sources for Meacham Syndrome

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